Non-alcoholic Fatty Liver Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
CONCLUSION: Our study demonstrates the key role of hepatic Elovl6 in the regulation of the acyl-chain composition of ceramide, and that C18:0-ceramide is a potent regulator of hepatic insulin signaling linked to Pnpla3-mediated NAFLD.
|
31529722 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A PNPLA3 variant showed association with lean NAFLD in the studied population.
|
30539516 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
The results revealed the potential mechanism underlying the effects of DAP on NAFLD in vitro: i) By increasing the phosphorylation of AMPK, DAP inhibited the expression of SREBP‑1C and PNPLA3, and induced that of PPARα.
|
30957185 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An I148 M variant in patatin-like phospholipase domain-containing protein 3 (PNPLA3) and an E167K variant in transmembrane 6 superfamily 2 (TM6SF2) are major genetic risk factors for the development and progression of NAFLD.
|
30550414 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Subgroup analyses found that PNPLA3 GG gene variant did not increase the risk for NAFLD in individuals with low ASM% regardless of obesity status.
|
31250467 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A common genetic variant, the patatin-like phospholipase domain-containing protein 3 (PNPLA3) has been associated with NAFLD.
|
31826069 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Regardless of the presence of NAFLD and common cardio-renal risk factors, in post-menopausal women with T2DM, the G/G genotype of rs738409 in the PNPLA3 gene was strongly associated with lower eGFR<sub>CKD-EPI</sub> and higher prevalence of CKD.
|
30763699 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study provides the first evidence that a Pnpla3 ASO therapy can improve all features of NAFLD, including liver fibrosis, and suppress the expression of a strong innate genetic risk factor, Pnpla3 148M, which may open up a precision medicine approach in NASH.
|
30772256 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we investigated the impact of MetS, PNPLA3 rs738409, TM6SF2 rs58542926 and MBOAT7 rs641738 on overall and cardiovascular disease (CVD) specific mortality among subjects with or without NAFLD.
|
31851849 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNPLA3, a locus previously identified with ALT, AST, and nonalcoholic fatty liver disease in European and Japanese GWAS, is also associated with liver enzymes in populations of Mexican American ancestry.
|
31219225 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among the 9342 participants with available genetic and aminotransferase data, the PNPLA3 G allele (odds ratio [OR], 1.53; 95% CI, 1.41-1.66), TM6SF2 T allele (OR, 1.41; 95% CI, 1.20-1.67), and PPP1R3B G allele (OR, 1.16; 95% CI, 1.06-1.28) were associated with suspected NAFLD.
|
30743004 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
BA and fibroblast growth factor 19 (FGF19) levels (a surrogate for intestinal farnesoid X receptor [FXR] activity), patatin-like phospholipase domain-containing 3 (PNPLA3) and transmembrane 6 superfamily member 2 (TM6SF2) variants, and gut microbiota profiles in lean and non-lean NAFLD were investigated in a cohort of Caucasian patients with biopsy-proven NAFLD (n = 538), lean healthy controls (n = 30), and experimental murine models.
|
31442319 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease.
|
31062641 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Emerging evidence also suggests a potential association between patatin-like phospholipase domain-containing protein-3 (PNPLA3) rs738409 genotype (the most important genetic variant associated with NAFLD) and decreasing kidney function, independent of NAFLD.
|
31738141 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
T2DM patients (<i>n</i>=328) not previously known to have NAFLD underwent clinical assessment, transient elastography with measure of liver stiffness (LS) and controlled attenuation parameter (CAP), and genotyping for patatin like phospholipase domain containing 3 (<i>PNPLA3</i>) and 17β-hydroxysteroid-dehydrogenase type 13 (<i>HSD17B13</i>).
|
31694082 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results show independent roles of the patatin like phospholipase domain-containing 3 gene, parental obesity, maternal SES, and postnatal diet and lifestyle in the development of progressive liver disease secondary to NAFLD.
|
31128886 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic performance of noninvasive tests for NAFLD varied markedly according to PNPLA3 genotypes.
|
31677195 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nonalcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD) share risk factors, and recent meta-analysis confirmed that NAFLD is an independent risk factor for incident CKD.<sup>1</sup> Genetic variants associated with NAFLD, such as patatin-like phospholipase domain-containing-3 (PNPLA3) rs738409<sup>2</sup> and transmembrane 6 superfamily member 2 (TM6SF2) rs5854292,<sup>2</sup> have been reported to be associated with renal function in NAFLD subjects.
|
31546054 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms 455 T > C of APOC3 and rs738409 C > G of PNPLA3 were associated with NAFLD.
|
31216264 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNPLA3 variant rs738409 has been identified as important progression factor in patients with ALD and NAFLD, the most common liver diseases worldwide.
|
30362098 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conclusion: Regardless of established renal risk factors and the histological severity of NAFLD, the PNPLA3 G/G genotype was strongly associated with decreasing kidney function and increasing 24-hour proteinuria in children/adolescents with histologically confirmed NAFLD.
|
30912854 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The rs738409 C>G variant of the patatin-like phospholipase domain containing 3 gene (PNPLA3) increases the risk of non-alcoholic fatty liver disease (NAFLD) with no predisposition for insulin resistance.
|
30673802 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, recent progress on the genotype/phenotype relationships in NAFLD patients indicates the development of NAFLD with a relative conservation of glucose metabolism in individuals with specific gene variants, such as the patatin-like phospholipase domain-containing 3 (PNPLA3) and transmembrane 6 superfamily member 2 protein (TM6SF2) variants.
|
31447675 |
2019 |
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We assessed the familial correlation of PRO-C3 concentration, the shared gene effects between PRO-C3 concentration and liver steatosis and fibrosis, and the association between PRO-C3 concentration and genetic variants in the patatin-like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), membrane-bound O-acyltransferase domain-containing (MBOAT), and glucokinase regulator (CGKR) genes.
|
30859582 |
2019 |
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNPLA3 rs738409[G] allele was significantly correlated with severe steatosis (P = 0.04), severe fibrosis at the time of enrollment (P = 0.0005) and fibrosis progression with an OR of 10.31 (95% CI 1.06 - 99.59, P = 0.04), after a mean follow-up time of 62.85 (95%CI: 52.21 - 76.15) months.
|
31642820 |
2019 |